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Mendelian genetic causes of the short child born small for gestational age

S D Chernausek1

  • 1University of Cincinnati School of Medicine, Ohio, USA. steven.chernausek@cchmc.org

Journal of Endocrinological Investigation
|April 18, 2006
PubMed

Insights

Approximately 5% of newborns are small for gestational age (SGA). This review focuses on genetic causes of persistent short stature in SGA children, particularly defects in insulin and insulin-like growth factor (IGF) pathways.

Area of Science:

  • Pediatrics
  • Genetics
  • Endocrinology

Background:

  • Small for gestational age (SGA) affects about 5% of newborns, with 10-15% experiencing persistent short stature.
  • Fetal growth is influenced by genetic and environmental factors, including malnutrition.
  • Rare genetic disorders like Leprechaunism, Bloom syndrome, and Fanconi anemia can cause intrauterine growth retardation.

Purpose of the Study:

  • To review Mendelian genetic disorders causing SGA.
  • To emphasize defects in insulin and insulin-like growth factor (IGF) pathways.
  • To explore their role in persistent short stature in SGA children.

Main Methods:

  • Review of published research on the GH/IGF axis.
  • Analysis of genetic defects in insulin and IGF pathways.
  • Examination of phenotypes in children with genetic growth disorders.

Main Results:

  • IGF-I signaling via IGF-IR is a critical growth-controlling element.
  • Defects in the GH/IGF axis can lead to growth impairment.
  • Genetic defects in insulin and IGF pathways are implicated in persistent short stature in some SGA children.

Conclusions:

  • Genetic factors play a significant role in SGA and persistent short stature.
  • Insulin and IGF pathways are crucial for normal growth.
  • Further research into these genetic pathways may identify therapeutic targets for SGA children.

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